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@ivanwilliammd ivanwilliammd released this 31 Mar 12:33
· 37 commits to main since this release
2.0
56df3c3

Summary

  • Expanding IDeRare pipeline encompassing translational bioinformatics from clinical EMR data to HPO
  • Added following database subset Phenotype Data Source :
    1. ICD10 to OMIM
    2. LOINC to HPO
    3. OMIM to HPO
    4. ORPHA to HPO
    5. ORPHA to OMIM
    6. SNOMED to HPO
    7. SNOMED to ORPHA

Features :

  • Convert the phenotype data to HPO code (accept mixed SNOMED, LOINC, and HPO code)
  • Linkage analysis of differential diagnosis (accept mixed SNOMED, ICD10, ORPHA, OMIM code)
  • Similarity scoring of differential diagnosis
  • Gene-disease recommendation based on the phenotype data.
  • Similarity scoring of recommended causative gene and disease.
  • Linkage analysis of recommended causative gene and disease based on phenotype data.
  • Example of the clinical data provided at Clinical Information Example section
Assets 2
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